Disease Term Disease ID Gene Symbol Classification References Source
X-linked agammaglobulinemia with growth hormone deficiency C0472813 BTK Causal Pathogenic evidence from ClinVar 7633429, 7711734, 7849721, 7880320, 8013627, 8695804, 8938104, 8939985, 9143921, 9260159, 9445504, 9545398, 9554752, 10737994, 11472359, 11668622, 11742281, 12204007, 12217331, 12405164, 12655572, 15661032, 16951917, 17765309, 18677443, 19904586, 20529312, 22139958, 23424595, 26350204, 27980540, 28359783 ClinVar
ELF4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18180883 -